Shining a Light on Rare Diseases: Sanquin Research on Rare Disease Day
On 28 February, the world marked Rare Disease Day, a moment to raise awareness for the millions of people affected by rare and life-threatening conditions. At Sanquin Research, this day is especially meaningful as we continue to push the boundaries of science to develop solutions for complex hematological disorders.
One of the conditions at the forefront of our research is immune thrombotic thrombocytopenic purpura (iTTP). This rare disorder occurs when auto-antibodies attack the enzyme ADAMTS13, which is critical for regulating platelet aggregation. Without treatment, ADAMTS13 deficiency can lead to uncontrolled clotting and is fatal in up to 90% of cases.
Innovation in Action
To tackle this challenge, Prof. Jan Voorberg and his team have developed an optimized ADAMTS13 enzyme replacement therapy. By engineering specific glycan patterns, this therapy is designed to resist auto-antibodies while preserving the enzyme’s natural function. In essence, it targets the root cause of iTTP, offering hope for patients who currently have limited treatment options.
Why It Matters
iTTP is devastating, rare, and urgently in need of better therapeutic solutions. Our candidate therapy represents a promising step forward, with the potential to improve outcomes for patients worldwide. Rare Disease Day is a reminder of the lives at stake and the importance of continued research, collaboration, and innovation.
Partnering for Impact
At Sanquin, we are committed to advancing iTTP therapy and other programs toward clinical development. We actively seek licensing and co-development partnerships to bring our innovations from the lab to patients who need them most.
If you’re interested in learning more or exploring collaboration opportunities, reach out to Stefanie Busold at Sanquin Research. Together, we can make a real difference for patients living with rare diseases.